VIPAS39

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Bleeding and platelet disorders

  BIALLELIC, autosomal or pseudoautosomal

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Inherited bleeding disorders

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal cholestasis

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Arthrogryposis - renal dysfunction - cholestasis

  0.83

• arthrogryposis-renal dysfunction-cholestasis syndrome

  0.70

• arthrogryposis, renal dysfunction, and cholestasis 1

  0.43

• hereditary disease

  0.19

• neoplasm

  0.02

• Abnormal renal physiology

  0.02

• cholestasis

  0.01

• arthrogryposis

  0.01

• ovarian carcinoma

  0.01

• ichthyosis

  0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)